• Gene id: 55851

Gene Summary

• Gene Symbol: PSENEN   Gene   UCSC   Ensembl
• Aliases: ACNINV2, MDS033, MSTP064, PEN-2, PEN2
• Gene name: presenilin enhancer, gamma-secretase subunit
• Alternate names: gamma-secretase subunit PEN-2, hematopoietic stem/progenitor cells protein MDS033, presenilin enhancer 2 homolog,
• Gene location: 19q13.12 (35745650: 35747518)     Exons: 4     NC_000019.10
• Gene summary(Entrez): Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors me
• OMIM: 607632

Protein Summary

• Protein general information: Q9NZ42  
  • Name: Gamma secretase subunit PEN 2 (Presenilin enhancer protein 2)
  • Length: 101  
  • Mass: 12029
  • Tissue specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. {ECO
• Sequence:

  MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRSAVGFLFWVIVLTSWI
  TIFQIYRPRWGALGDYLSFTIPLGTP

• Structural information:
  • Interpro: IPR019379  
  • PDB: 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • PDBsum: 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • DIP: 36337
  • STRING: ENSP00000468411
• Other Databases: GeneCards:  PSENEN  Malacards:  PSENEN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0043085	positive regulation of catalytic activity	IDA	biological process
GO:0007220	Notch receptor processing	TAS	biological process
GO:0016485	protein processing	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042987	amyloid precursor protein catabolic process	TAS	biological process
GO:0007220	Notch receptor processing	IBA	biological process
GO:0070765	gamma-secretase complex	IBA	cellular component
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016485	protein processing	IMP	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0010950	positive regulation of endopeptidase activity	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Acne inversa	KEGG:H00681
Acne inversa	KEGG:H00681
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray